Geroderma Osteodysplasticum

Alternative Names

  • GO
  • Gerodermia Osteodysplastica
  • Walt Disney Dwarfism
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number

231070

Mode of Inheritance

Autosomal recessive

Gene Map Locus

1q24.2

Description

Gerodermia osteodysplastica (GO) is a rare autosomal recessive disorder characterized by premature aging signs such as osteoporosis, joint laxity, wrinkled and lax skin with reduced elasticity. Osteoporosis in affected patients is associated with vertebrae compression and susceptibility to fractures. Growth deficiency and intellectual disability are also noted in patients with GO.

Gerodermia osteodysplastica results from mutations in GORAB gene.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
231070.1.1Saudi ArabiaFemaleYesYes Prematurely aged appearance; Macrotia;...NM_152281.3:c.658G>CHomozygousAutosomal, RecessiveAl-Dosari and Alkuraya, 2009 Family belongs to th...
231070.1.2Saudi ArabiaMaleYesYes Prematurely aged appearance; Macrotia;...NM_152281.3:c.658G>CHomozygousAutosomal, RecessiveAl-Dosari and Alkuraya, 2009 Brother of 231070.1....
231070.2.1Saudi ArabiaFemaleYesYes Prematurely aged appearance; Macroti...NM_152281.3:c.231dupHomozygousAutosomal, RecessiveAl-Dosari and Alkuraya, 2009 Family originates fr...
231070.2.2Saudi ArabiaMaleYesYes Prematurely aged appearance; Macrot...NM_152281.3:c.231dupHomozygousAutosomal, RecessiveAl-Dosari and Alkuraya, 2009 Cousin of 231070.2.1
231070.3.1Saudi ArabiaFemaleYesYes Prematurely aged appearance; Macro...NM_152281.3:c.231dupHomozygousAutosomal, RecessiveAl-Dosari and Alkuraya, 2009 Family originates fr...
231070.3.2Saudi ArabiaFemaleYesYes Prematurely aged appearance; Macro...NM_152281.3:c.231dupHomozygousAutosomal, RecessiveAl-Dosari and Alkuraya, 2009 Sister of 231070.3.1
231070.4Saudi ArabiaFemaleNoYes Prematurely aged appearance; Macrotia...NM_152281.3:c.231dupHomozygousAutosomal, RecessiveAl-Dosari and Alkuraya, 2009 Patient originates f...
231070.5Saudi ArabiaFemaleYes Generalized joint laxity; Hip dysplasia;...NM_152281.3:c.231dupHomozygousAutosomal, RecessiveMaddirevula et al. 2018
231070.6.1Saudi ArabiaFemaleYesYes Joint laxity; Abnormal facial shape; Ost...NM_152281.3:c.231dupHomozygousAutosomal, RecessiveMaddirevula et al. 2018
231070.6.2Saudi ArabiaFemaleYesYes Joint laxity; Abnormal facial shape; Ost...NM_152281.3:c.231dupHomozygousAutosomal, RecessiveMaddirevula et al. 2018 Relative of 231070.6...
231070.7Saudi ArabiaFemaleYesYes Congenital bilateral hip dislocation; Hy...NM_152281.3:c.231dupHomozygousAutosomal, RecessiveMaddirevula et al. 2018
231070.8Saudi ArabiaFemaleYesYes Global developmental delay; Multiple ren...NM_152281.3:c.231dupHomozygousAutosomal, RecessiveMaddirevula et al. 2018
231070.9.1Saudi ArabiaFemaleYesYes Cutis laxa; Joint laxity; Abnormal heart...NM_152281.3:c.658G>CHomozygousAutosomal, RecessiveMaddirevula et al. 2018
231070.9.2Saudi ArabiaMaleYesYes Cutis laxa; Joint laxity; Abnormal heart...NM_152281.3:c.658G>CHomozygousAutosomal, RecessiveMaddirevula et al. 2018 Relative of 231070.9...
231070.10Saudi ArabiaMaleYes Global developmental delay; Abnormal fac...NM_152281.3:c.231dupHomozygousAutosomal, RecessiveMaddirevula et al. 2018
231070.11.1Saudi ArabiaMaleYesNo Osteopenia; Recurrent fracturesNM_152281.3:c.231dupHomozygousAutosomal, RecessiveMaddirevula et al. 2018
231070.11.2Saudi ArabiaMaleYesNo Osteopenia; Recurrent fracturesNM_152281.3:c.231dupHomozygousAutosomal, RecessiveMaddirevula et al. 2018 Relative of 231070.1...
231070.G.1Saudi ArabiaYesYes Cutis laxa; Joint laxity; Abnormal heart...NM_152281.3:c.231dupHomozygousAutosomal, RecessiveMaddirevula et al. 2018 Four related patient...

Other Reports

Kuwait

Al-Torki et al. (1997) reported the first Arab family with gerodermia osteodysplastica in which there were two affected female siblings. The parents were second cousin healthy Kuwaitis with Bedouin ancestors. A deceased brother of their paternal grandfather has been reported by the family to have a similar phenotype.

Morocco

Lustmann et al. (1993) presented four individuals with Gerodermia Osteodysplastica in a Jewish family from Morocco confirming the autosomal recessive inheritance of the disorder. 

Oman

Rajab et al. (2008) prospectively studied Omani patients diagnosed with GO, Wrinkly Skin Syndrome (WSS), and Cutis Laxa with Growth and Developmental Delay (ARCL2) between 1993 and 2004. A total of 11 patients (5 males, 6 females) from four families were diagnosed with GO during this period. 

Palestine

Al-Gazali et al. (2001) reported three patients for a Palestinian consanguineous couple, residents of the United Arab Emirates, who also have one normal child. 

Syria

Al-Gazali et al. (2001) reported two affected children for a Syrian consanguineous couple, residents of the United Arab Emirates, with no family history of any significant problems. 

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